Linked Data
ClinVar Variation Id:
538864
dbSNP Id:
rs201196622
ExAC:
7:4825182 C / T
gnomAD v2:
7-4825182-C-T
gnomAD v3:
7-4785551-C-T
gnomAD v4:
7-4785551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4785551C>T , CM000669.2:g.4785551C>T | GRCh38 |
| NC_000007.13:g.4825182C>T , CM000669.1:g.4825182C>T | GRCh37 |
| NC_000007.12:g.4791708C>T | NCBI36 |
| NG_028111.1:g.14921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.757C>T | ||
| ENST00000496303.6:n.827C>T | ||
| ENST00000647628.1:n.490C>T | ||
| ENST00000647984.1:c.*344C>T | ENSP00000497794.1:n.*344C>T | |
| ENST00000648925.1:c.999C>T | ENSP00000496830.1:p.Asp333= | |
| ENST00000649063.2:c.999C>T MANE Select | ENSP00000497815.1:p.Asp333= | |
| ENST00000649315.1:c.209C>T | ||
| ENST00000649419.1:n.275C>T | ||
| ENST00000650310.1:c.999C>T | ENSP00000497395.1:p.Asp333= | |
| ENST00000348624.4:c.999C>T | ENSP00000297562.4:p.Asp333= | |
| ENST00000477680.5:n.757C>T | ||
| ENST00000496303.5:n.1063C>T | ||
| NM_014855.2:c.999C>T | NP_055670.1:p.Asp333= | |
| XR_242109.1:n.1024C>T | ||
| NM_001364858.1:c.531C>T | NP_001351787.1:p.Asp177= | |
| NM_014855.3:c.999C>T MANE Select | NP_055670.1:p.Asp333= | |
| NR_157345.1:n.1092C>T |